Immunodeficiencies

Question 1

Chronic granulomatous Disease is a defect in?

Answer 1

NADPH oxidase

Question 2

NADPH oxidase converts?

Answer 2

O2 into Superoxide

Question 3

Pt has a defective NADPH oxidase. What bacterial species is he most at risk for?

Answer 3

Staph
Aspergillus, Candida
Pseudomonas and Klebsiella
Serratia

Question 4

Bacterial catalase does what?

Answer 4

converts bacterial H2O2 to water and O2, so our WBC can’t utilitze the H2O2

Question 5

describe an infection with catalase - bug in a CGD pt

Answer 5

bug makes H2O2, WBC utilizes it

MPO enzyme combines Cl and H2O2 = HOCl (toxic to bug)

Question 6

Pt has multiple bouts of infection by a G- diplococci. Its got a peptidoglycan capsule, ferments glucose and maltose, and is oxidase +. He’s got a stiff neck and a headache. What are we thinkin?

Answer 6

MAC deficiency (C5-9)

Question 7

Why is Neisseria a great target for complement/MAC?

Answer 7

has LOS in cell wall (smaller, allows it to slip in)

Question 8

A patient presents with recurrent sinus/respiratory infections. He has a lumpy bumpy pattern on exam of the glomerulus. What is deficient?

Answer 8

C3

Question 9

Pt presents with a SUPER EDEMATOUS face. What is deficient?

Answer 9

C1-INH (inhibitor)

causes hereditery angioedema

Question 10

Pt has B cells but no T cells. What Ig is present?

Answer 10

only IgM (no class switching)

Question 11

Pt has T cells but no B cells. How is this transmitted?

Answer 11

X linked (agammaglobinemia)

Question 12

Pt has T cells but no B cells. What is the gene and the product that is defective?

Answer 12

BTK gene (tyrosine kinase)

Question 13

The enzyme deficient in Bruton’s agammaglobinemia does what to B cells?

Answer 13

Converts them from Pro-B to Pre-B

Question 14

Patients with Bruton’s agammaglobinemia have

Answer 14

lo Ig of ALL CLASSES

Question 15

Pt has super hi levels of IgM. What is the most likely mutation?

Answer 15

Defective CD40L on Th cells (can’t class switch)

Question 16

What 2 diseases can you not class switch?

Answer 16

DiGeorge: no T cells

Hyper IgM syndrome: CD40L mutation

Question 17

Recurrent sinus/lung/GI infections. Not lumpy bumpy on glomerulus. What is deficient?

Answer 17

IgA

Question 18

Little kid comes in with constant pyogenic infections. He’s pasty white. What process is deficient and what gene causes this?

Answer 18

defective phagosome-lysosome fusion

AR mutation in LYST (lysosomal regulator trafficking gene)

Question 19

What cell type is nonexistent in Chediak Higashi?

Answer 19

NK cells

Question 20

Leukocyte adhesion deficiency is a defect in?

Answer 20

CD18 (of integrin)

Question 21

Pt presents with Thrombocytopenic purpura, recurrent infections, and eczema. Name of dz?

Answer 21

Wiscott-Aldrich syndrome

Question 22

Wiscott-Aldrich syndrome manifests how?

Answer 22

X linked R; progressive deletion of B and T cells